Genetics and epigenetics of autism spectrum disorder—current evidence in the field

od Wiśniowiecka-Kowalnik, Barbara, Nowakowska, Beata Anna
Izdano u J Appl Genet (2019)

Multiple samples aCGH analysis for rare CNVs detection

od Sykulski, Maciej, Gambin, Tomasz, Bartnik, Magdalena, Derwińska, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Stankiewicz, Paweł, Gambin, Anna
Izdano 2013

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

od Wiśniowiecka-Kowalnik, Barbara, Kastory-Bronowska, Monika, Bartnik, Magdalena, Derwińska, Katarzyna, Dymczak-Domini, Wanda, Szumbarska, Dorota, Ziemka, Ewa, Szczałuba, Krzysztof, Sykulski, Maciej, Gambin, Tomasz, Gambin, Anna, Shaw, Chad A, Mazurczak, Tadeusz, Obersztyn, Ewa, Bocian, Ewa, Stankiewicz, Paweł
Izdano 2013

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

od Bartnik, Magdalena, Nowakowska, Beata, Derwińska, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Kędzior, Marta, Bernaciak, Joanna, Ziemkiewicz, Kamila, Gambin, Tomasz, Sykulski, Maciej, Bezniakow, Natalia, Korniszewski, Lech, Kutkowska-Kaźmierczak, Anna, Klapecki, Jakub, Szczałuba, Krzysztof, Shaw, Chad A., Mazurczak, Tadeusz, Gambin, Anna, Obersztyn, Ewa, Bocian, Ewa, Stankiewicz, Paweł
Izdano 2013

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

od Campbell, Ian M., Yuan, Bo, Robberecht, Caroline, Pfundt, Rolph, Szafranski, Przemyslaw, McEntagart, Meriel E., Nagamani, Sandesh C.S., Erez, Ayelet, Bartnik, Magdalena, Wiśniowiecka-Kowalnik, Barbara, Plunkett, Katie S., Pursley, Amber N., Kang, Sung-Hae L., Bi, Weimin, Lalani, Seema R., Bacino, Carlos A., Vast, Mala, Marks, Karen, Patton, Michael, Olofsson, Peter, Patel, Ankita, Veltman, Joris A., Cheung, Sau Wai, Shaw, Chad A., Vissers, Lisenka E.L.M., Vermeesch, Joris R., Lupski, James R., Stankiewicz, Paweł
Izdano 2014

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

od Ji, Jianling, Lee, Hane, Argiropoulos, Bob, Dorrani, Naghmeh, Mann, John, Martinez-Agosto, Julian A, Gomez-Ospina, Natalia, Gallant, Natalie, Bernstein, Jonathan A, Hudgins, Louanne, Slattery, Leah, Isidor, Bertrand, Le Caignec, Cédric, David, Albert, Obersztyn, Ewa, Wiśniowiecka-Kowalnik, Barbara, Fox, Michelle, Deignan, Joshua L, Vilain, Eric, Hendricks, Emily, Horton Harr, Margaret, Noon, Sarah E, Jackson, Jessi R, Wilkens, Alisha, Mirzaa, Ghayda, Salamon, Noriko, Abramson, Jeff, Zackai, Elaine H, Krantz, Ian, Innes, A Micheil, Nelson, Stanley F, Grody, Wayne W, Quintero-Rivera, Fabiola
Izdano u Eur J Hum Genet (2015)

Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH

od Boone, Philip M., Bacino, Carlos A., Shaw, Chad A., Eng, Patricia A., Hixson, Patricia M., Pursley, Amber N., Kang, Sung-Hae L., Yang, Yaping, Wiszniewska, Joanna, Nowakowska, Beata A., Gaudio, Daniela del, Xia, Zhilian, Simpson-Patel, Gayle, Immken, LaDonna L., Gibson, James B., Tsai, Anne C.-H., Bowers, Jennifer A., Reimschisel, Tyler E., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Gambin, Tomasz, Sykulski, Maciej, Bartnik, Magdalena, Derwinska, Katarzyna, Wisniowiecka-Kowalnik, Barbara, Lalani, Seema R., Probst, Frank J., Bi, Weimin, Beaudet, Arthur L., Patel, Ankita, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel
Izdano 2010